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Understanding Genetic Testing

Genetic testing may be considered for many different reasons and should always be discussed with a health professional.

Different types of genetic tests are used depending on whether an individual’s chromosomes, the protein - product of a gene, or the DNA itself are examined.

Genetic Testing Services

Information for people making a decision about having a genetic test
  • Genetic testing involves analysis of a person’s DNA or the message that the DNA code is sending to the cells of the body 
  • Genetic testing can be carried out on a developing baby (prenatal), during childhood or later in life
  • Depending on the type of genetic condition being tested for or the type of DNA variation, different ways of analysing the DNA may be utilised.

There are advantages and disadvantages to genetic testing. Genetic testing should only be used after all the benefits, costs and implications have been considered. Genetic testing will usually be discussed with a specialist genetic team who can provide the most up to date information in order to ensure the genetic test is being offered and undertaken with full consent in the most informed and considered way for the individual and their family.

If you are considering a genetic test and would like to discover the options you have, contact your local Genetics Service 

Direct to consumer testing

In recent years the number of DNA genetic tests that is available direct to consumers, i.e. without referral from a doctor, has increased.  The NHMRC has produced a document for consumers.

Understanding Direct-to-Consumer Genetic DNA Testing


Important things to think about

Some ethical issues in human genetics

Ethical issues need to be considered if the benefits are maximised and the harms minimised from the increasing ability to use genetic testing to analyse an individual’s genetic information. Ethical issues that arise are generated from:

    • The shared nature and ownership of genetic information
    • Limitations of genetic testing
    • Inappropriate applications of genetic testing
    • The potential for discrimination
    • Setting boundaries in applications of the genetics technology
    • Forensic DNA databanks
    • Patenting of genes

    For more detailed information

    Fact Sheet 19: Some Ethical Issues in Human Genetics

    Fact Sheet 20: Life Insurance Products and Genetic Testing in Australia

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    Who to talk to about Genetic Testing

    DNA genetic testing should always be undertaken by a specialist genetic service. The range and extent of genetics services available will vary throughout Australian States and Territories. Very often the service is based in a specialist paediatric or obstetric department of a hospital. While it is preferable to have a referral from a doctor or specialist in order to access genetic counselling services, an appointment can usually be made without any referral. Health care interpreter services are also available.

    Find a Genetic Testing Service

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